KEGG MEDICUS 疾患情報 |
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| エントリ | 名称 | 概要 | カテゴリ | パスウェイ | 病因遺伝子 |
|---|---|---|---|---|---|
| H00483 | 天使形指節骨・骨端異形成症 | Angel shaped phalangoepiphyseal dysplasia (ASPED) is one type of osteochondrodysplasia characterized by angel shaped middle phalanges and generalized epiphyseal dysplasia that disproportionately affects ... | 先天奇形 | GDF5 [HSA:8200] [KO:K04664] | |
| H00484 | 多発性骨癒合症症候群 | Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional ... | 先天奇形 |
(SYNS1) NOG [HSA:9241] [KO:K04658] (SYNS2) GDF5 [HSA:8200] [KO:K04664] (SYNS3) FGF9 [HSA:2254] [KO:K04358] (SYNS4) GDF6 [HSA:392255] [KO:K20012] |
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| H00485 | ロビノウ症候群 | Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic ... | 先天奇形 |
(RRS1) ROR2 [HSA:4920] [KO:K05123] (RRS2) NXN [HSA:64359] [KO:K17609] (DRS1) WNT5A [HSA:7474] [KO:K00444] (DRS2) DVL1 [HSA:1855] [KO:K02353] (DRS3) DVL3 [HSA:1857] [KO:K02353] |
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| H00486 | 硬結性骨化症 | Sclerosteosis is rare sclerosing bone dysplasias inherited in an autosomal recessive manner. The main clinical features are enlargement of the jaw and facial bones, which can lead to secondary findings ... | 先天奇形 |
(SOST1) SOST [HSA:50964] [KO:K16834] (SOST2) LRP4 [HSA:4038] [KO:K20051] |
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| H00487 | 毛髪・歯・骨症候群 | Tricho-dento-osseous syndrome (TDO) is a dysplasia with an autosomal dominant mode of inheritance. Mutation in DLX3 leads to the defects in hair, teeth, and bone. | 先天奇形 | DLX3 [HSA:1747] [KO:K09315] | |
| H00488 |
MCAD 欠損症 中鎖アシル CoA デヒドロゲナーゼ欠損症 ACADM 欠損症 |
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder, caused by mutations in the ACADM gene. It is the most commonly recognized defect of mitochondrial beta-oxidation ... | 先天性代謝異常症, ミトコンドリア病 | ACADM [HSA:34] [KO:K00249] | |
| H00489 |
LCHAD 欠損症 長鎖 3-ヒドロキシアシル CoA 脱水素酵素欠損症 |
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. It is characterized by ... | 先天性代謝異常症, ミトコンドリア病 | HADHA [HSA:3030] [KO:K07515] | |
| H00490 |
貧血を伴う骨幹異形成 Ghosal hematodiaphyseal dysplasia |
Diaphyseal dysplasia with anemia (Ghosal) is characterized by increased bone density associated with myelophthisic anemia. Mutation in TBXAS1, which encodes thromboxane synthase, has been reported. | 先天奇形 | TBXAS1 [HSA:6916] [KO:K01832] | |
| H00491 | 頭蓋骨幹異形成症 | Craniometaphyseal dysplasia (CMD) is a rare condition characterized by progressive hyperostosis of cranial bones and malformations of metaphyseal long bones. Familial CMD is sub-classified based on its ... | 先天奇形 |
(CMDD) ANKH [HSA:56172] [KO:K22734] (CMDR) GJA1 [HSA:2697] [KO:K07372] |
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| H00492 | SHOX-関連低身長症 | Isolated short stature, Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to ... | 先天奇形 | SHOX [HSA:6473] [KO:K09331] | |
| H00493 | ヘパラン硫酸プロテオグリカン異常 | Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins ... | 先天奇形 |
(DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255] (SGBS1) GPC3 [HSA:2719] [KO:K08109] (OMOD1) GPC6 [HSA:10082] [KO:K08112] (EXT1) EXT1 [HSA:2131] [KO:K02366] (EXT2) EXT2 [HSA:2132] [KO:K02367] |
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| H00494 |
Desbuquois 症候群 Desbuquois 異形成 |
Desbuquois syndrome is an autosomal recessive chondrodysplasia. Highly characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated ... | 先天奇形 |
(DBQD1) CANT1 [HSA:124583] [KO:K12304] (DBQD2) XYLT1 [HSA:64131] [KO:K00771] |
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| H00495 | Eiken dysplasia | Eiken dysplasia is an extremely rare form of multiple epiphyseal dysplasia. It is caused by a homozygous nonsense mutation in the PTHR1 gene. | 先天奇形 | PTHR1 [HSA:5745] [KO:K04585] | |
| H00496 | CHILD 症候群 | Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) is an X-linked dominant, male-lethal trait with a lateralized inflammatory nevus and body hypoplasia. Loss of function of NSDHL ... | 先天奇形 | NSDHL [HSA:50814] [KO:K07748] | |
| H00497 | ケルビム症 | Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, ... | 消化器系疾患 | SH3BP2 [HSA:6452] [KO:K07984] | |
| H00498 | 顎骨骨幹異形成症 | Gnathodiaphyseal dysplasia is a rare skeletal syndrome with autosomal dominant inheritance. It is characterized by cemento-osseous lesions of the jawbone, bone fragility, and sclerosis of tubular bones ... | 筋骨格疾患 | GDD1/TMEM16E [HSA:203859] [KO:K19480] | |
| H00499 | 椎骨-手根骨-足根骨癒合症候群 | Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing ... | 先天奇形 | FLNB (nonsense mutation) [HSA:2317] [KO:K27392] | |
| H00500 | Keutel 症候群 | Keutel syndrome is a rare autosomal recessive condition characterized by diffuse cartilage calcification. Mutations in the matrix Gla protein gene (MGP) have been reported. | 先天奇形 | MGP [HSA:4256] [KO:K19481] | |
| H00501 |
多骨性線維性骨異形成症 マッキューン・オルブライト症候群 アルブライト遺伝性骨ジストロフィー |
Polyostotic fibrous dysplasia is a condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of ... | 先天奇形 | GNAS [HSA:2778] [KO:K04632] | |
| H00502 | Pallister-Hall 症候群 | Pallister-Hall syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused ... | 先天奇形 |
(PHS) GLI3 [HSA:2737] [KO:K06230] (PHLS) SMO [HSA:6608] [KO:K06226] |
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| H00503 | Ellis-van Creveld 症候群 | Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder of bone growth. Individuals with this condition have short ribs, postaxial polydactyly, and dysplastic teeth and nails. Congenital cardiovascular ... | 先天奇形 |
EVC1 [HSA:2121] [KO:K19605] EVC2 [HSA:132884] [KO:K19608] |
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| H00504 | ルビンシュタイン・テイビ症候群 | Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the ... | 先天奇形 |
(RSTS1) CREBBP [HSA:1387] [KO:K04498] (RSTS2) EP300 [HSA:2033] [KO:K04498] |
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| H00505 | FGFR3関連骨異形成症 | FGFR3-related short limb skeletal dysplasias are a group of dwarfisms ranging from mild to lethal at the severe end. FGFR3 mutations cause these conditions by disrupting endochondral bone growth. | 先天奇形 | FGFR3 [HSA:2261] [KO:K05094] | |
| H00506 | 骨形成不全症 | Osteogenesis imperfecta (OI) is characterized by an inherited bone fragility mainly caused by mutations in type I collagen. Poor teeth development, blue sclerae and hearing impairment also manifest in ... | 先天奇形 |
(OI1/2/3/4) COL1A1 [HSA:1277] [KO:K06236] (OI2/3/4) COL1A2 [HSA:1278] [KO:K06236] (OI5) IFITM5 [HSA:387733] [KO:K06566] (OI6) SERPINF1 [HSA:5176] [KO:K19614] (OI7) CRTAP [HSA:10491] [KO:K19606] (OI8) P3H1 [HSA:64175] [KO:K08134] (OI9) PPIB [HSA:5479] [KO:K03768] (OI10) SERPINH1 [HSA:871] [KO:K09501] (OI11) FKBP10 [HSA:60681] [KO:K09575] (OI12) SP7 [HSA:121340] [KO:K09197] (OI13) BMP1 [HSA:649] [KO:K05502] (OI14) TMEM38B [HSA:55151] [KO:K24013] (OI15) WNT1 [HSA:7471] [KO:K03209] (OI16) CREB3L1 [HSA:90993] [KO:K09048] (OI17) SPARC [HSA:6678] [KO:K24262] (OI18) TENT5A [HSA:55603] [KO:K23033] (OI19) MBTPS2 [HSA:51360] [KO:K07765] (OI20) MESD [HSA:23184] [KO:K25366] (OI21) KDELR2 [HSA:11014] [KO:K10949] (OI22) CCDC134 [HSA:79879] [KO:K25417] (OI23) PHLDB1 [HSA:23187] [KO:K23794] |
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| H00507 | 先天性角化異常症 | Dyskeratosis congenita (DC) is a severe inherited bone marrow failure syndrome with associated cutaneous and noncutaneous abnormalities. In most cases, the inheritance pattern is X-linked recessive, while ... | リボソーム病 |
(DKCX) DKC1 [HSA:1736] [KO:K11131] (DKCA1) TERC [HSA:7012] [KO:K22183] (DKCA2/B4) TERT [HSA:7015] [KO:K11126] (DKCA3/A5) TINF2 [HSA:26277] [KO:K11112] (DKCA4/B5) RTEL1 [HSA:51750] [KO:K11136] (DKCA6/B7) ACD [HSA:65057] [KO:K11114] (DKCB1) NOP10 [HSA:55505] [KO:K11130] (DKCB2) NHP2 [HSA:55651] [KO:K11129] (DKCB3) WRAP53 [HSA:55135] [KO:K23314] (DKCB6) PARN [HSA:5073] [KO:K01148] (DKCB8) DCLRE1B [HSA:64858] [KO:K15341] (DKCD) TYMS [HSA:7298] [KO:K00560] |
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| H00508 |
Blomstrand 症候群 Blomstrand 軟骨異形成症 |
Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation. | 先天奇形 | PTHR1 [HSA:5745] [KO:K04585] | |
| H00509 | 3M 症候群 | The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1. | 先天奇形 |
(3M1) CUL7 [HSA:9820] [KO:K10613] (3M2) OBSL1 [HSA:23363] [KO:K19574] (3M3) CCDC8 [HSA:83987] [KO:K17561] |
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| H00510 | ファインゴールド症候群 | Feingold syndrome (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as ... | 先天奇形 | (FGLDS1) MYCN [HSA:4613] [KO:K09109] | |
| H00511 | 短肋骨多指症候群 | Short-rib polydactyly syndromes (SRPS) are most frequent autosomal recessive osteochondrodysplasias ascribed to mutations in DYNC2H1, a cytoplasmic dynein. The fetus with SRP develops polydactyly, shortened ... | 先天奇形 |
(SRPS1/2B/3) DYNC2H1 [HSA:79659] [KO:K10414] (SRPS2A) NEK1 [HSA:4750] [KO:K08857] (SRPS5) WDR35 [HSA:57539] [KO:K19674] (SRPS6) DYNC2I1 [HSA:55112] [KO:K22869] |
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| H00512 | 新生児永続型糖尿病 | Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient ... | 内分泌代謝疾患 |
(PNDM1) GCK [HSA:2645] [KO:K12407] (PNDM2) KCNJ11 [HSA:3767] [KO:K05004] (PNDM3) ABCC8 [HSA:6833] [KO:K05032] (PNDM4) INS [HSA:3630] [KO:K04526] (PAGEN1) PDX1 [HSA:3651] [KO:K07594] (PACA) PTF1A [HSA:256297] [KO:K09073] (IPEX) FOXP3 [HSA:50943] [KO:K10163] (NDH) GLIS3 [HSA:169792] [KO:K09232] |